This study was approved by the Institutional Review Board of Samsung Medical Center (SMC), Seoul, Korea (approval numbers 2024-02-006 and 2025-06-084). The study was performed as a retrospective ...
Understanding the disease risk of genetic variants is fundamental to precision medicine. Estimates of penetrance—the probability of disease for individuals with a variant allele—rely on ...
Genetic risk models, including PREMMplus and BOADICEA/CanRisk, refine breast cancer risk assessment by incorporating genetic status and polygenic risk scores. Challenges in classifying gene variants, ...
The American College of Medical Genetics and Genomics (ACMG) has released its highly anticipated 2025 update to the recommended minimum gene list for the reporting of secondary findings (SF) in ...
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